pattern for disease caused by one of multiple genes

src/ontology/mondo-edit.obo

@@ -71,6 +71,7 @@ property_value: IAO:0000700 MONDO:0000001
 property_value: IAO:0000700 MONDO:0021125
 property_value: IAO:0000700 MONDO:0021178
 property_value: IAO:0000700 MONDO:0042489
+owl-axioms: Prefix(owl:=<http://www.w3.org/2002/07/owl#>)\nPrefix(rdf:=<http://www.w3.org/1999/02/22-rdf-syntax-ns#>)\nPrefix(xml:=<http://www.w3.org/XML/1998/namespace>)\nPrefix(xsd:=<http://www.w3.org/2001/XMLSchema#>)\nPrefix(rdfs:=<http://www.w3.org/2000/01/rdf-schema#>)\n\n\nOntology(\nDeclaration(Class(<http://identifiers.org/hgnc/9175>))\nDeclaration(Class(<http://identifiers.org/hgnc/9176>))\nDeclaration(Class(<http://purl.obolibrary.org/obo/MONDO_0018814>))\nDeclaration(Class(<http://purl.obolibrary.org/obo/MONDO_0800145>))\nDeclaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO_0004003>))\n\n############################\n#   Classes\n############################\n\n# Class: <http://purl.obolibrary.org/obo/MONDO_0800145> (<http://purl.obolibrary.org/obo/MONDO_0800145>)\n\nEquivalentClasses(<http://purl.obolibrary.org/obo/MONDO_0800145> ObjectIntersectionOf(<http://purl.obolibrary.org/obo/MONDO_0018814> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0004003> ObjectUnionOf(<http://identifiers.org/hgnc/9175> <http://identifiers.org/hgnc/9176>))))\n\n\n)
 
 [Term]
 id: MONDO:0000001
@@ -559912,6 +559913,8 @@ id: MONDO:0970994
 name: immunodeficiency 120
 xref: OMIM:620836 {source="MONDO:equivalentTo"}
 is_a: MONDO:0021094 {source="OMIM:620836", source="https://orcid.org/0000-0002-4142-7153"} ! immunodeficiency disease
+intersection_of: MONDO:0021094 ! immunodeficiency disease
+intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9175 ! POLD1
 
 [Term]
 id: MONDO:0970995

src/patterns/dosdp-patterns/disease_series_by_groupofgenes.yaml

@@ -0,0 +1,62 @@
+pattern_name: disease_series_by_groupofgenes
+
+pattern_iri: http://purl.obolibrary.org/obo/mondo/patterns/disease_series_by_groupofgenes.yaml
+
+description: 'This pattern is for diseases that are caused by variation(s) in one of multiple genes, most often one gene belonging to a complex. For example: [non-severe combined immunodeficiency due to polymerase delta deficiency](http://purl.obolibrary.org/obo/MONDO_0800145)'. This pattern is shown for diseases where one of 2 (only) genes would be causal, but it is possible that more than 2 genes need to be included.
+# this pattern does not allow for disease term in which the cause of the disease is a variation in multiple genes at the same time.
+
+
+contributors:
+- https://orcid.org/0000-0002-4142-7153
+
+classes:
+  disease: MONDO:0700096
+  gene: SO:0000704
+
+relations:
+  has material basis in germline mutation in: RO:0004003
+
+annotationProperties:
+  exact_synonym: oio:hasExactSynonym
+  related_synonym: oio:hasRelatedSynonym
+
+vars:
+  disease: '''disease'''
+  gene: '''gene'''
+
+#name:
+#  text: '%s caused by variation in %s'
+#  vars:
+#  - disease
+#  - gene
+
+#annotations:
+#- annotationProperty: exact_synonym
+#  text: '%s %s'
+#  vars:
+#  - gene
+#  - disease
+#- annotationProperty: exact_synonym
+#  text: '%s related %s'
+#  vars:
+#  - gene
+#  - disease
+#- annotationProperty: exact_synonym
+#  text: '%s caused by mutation in %s'
+#  vars:
+#  - disease
+#  - gene
+
+def:
+  text: Any %s in which the cause of the disease is a variation in either of %s or %s genes.
+  vars:
+  - disease
+  - gene
+  - gene
+
+equivalentTo:
+  text: '%s and ''has material basis in germline mutation in'' some (%s or %s)'
+  vars:
+  - disease
+  - gene
+  - gene